A roadmap for precision medicine in the epilepsies.
A roadmap for precision medicine in the epilepsies.
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DOI：
10.1016/s1474-4422(15)00199-4
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发表时间：
2015-12
期刊：
影响因子：
--
通讯作者：
EpiPM Consortium
中科院分区：
文献类型：
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作者：
EpiPM Consortium
技术进步为加速基因组发现铺平了道路，并使精准医学清晰可见。癫痫研究特别适合作为精准医学中靶向治疗的开发和部署的模型，因为癫痫遗传知识库的快速扩展、良好的体外和体内模型系统可有效研究基因突变的生物学后果、将这些模型转化为有效药物筛选平台的能力以及合作研究小组的建立。展望未来，我们加强这些合作至关重要，特别是通过综合研究平台，为准确的个人基因组分析以及基因和药物发现提供可靠的分析。同样，临床试验网络的实施将允许扩大患有遗传性癫痫的患者样本群体，以便将药物发现转化为临床实践。
Technological advances have paved the way for accelerated genomic discovery and are bringing precision medicine clearly into view. Epilepsy research in particular is well-suited to serve as a model for the development and deployment of targeted therapeutics in precision medicine because of the rapidly expanding genetic knowledge base in epilepsy, the availability of good in vitro and in vivo model systems to efficiently study the biological consequences of genetic mutations, the ability to turn these models into effective drug screening platforms, and the establishment of collaborative research groups. Moving forward, it is critical that we strengthen these collaborations, particularly through integrated research platforms to provide robust analyses both for accurate personal genome analysis and gene and drug discovery. Similarly, the implementation of clinical trial networks will allow the expansion of patient sample populations with genetically defined epilepsy so that drug discovery can be translated into clinical practice.